Talk:Adrenoleukodystrophy

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I'd like to suggest that some material be added to this article so that the average person can better understand ALD. The article is technically perfect but it needs to be more user friendly so that the average person can carry away some understanding after reading it. I don't want to edit it myself but I'll make these suggestions for making the article more reader friendly & useful.

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ALD is a condition affecting boys that triggers a build-up of saturated, very long-chain fatty acids in the brain. The myelin sheath, a protective coating on nerve cells that allows electrical impulses to flow normally from cell to cell, is destroyed. These fatty acids can be identified in the blood at birth. The more severe form of ALD causes brain damage that totally disables a boy within two years.

Dr. Hugo W. Moser, director of neurogenetics at the Kennedy Krieger Institute and professor of neurology and pediatrics at Hopkins, began offering "Lorenzo's oil" to patients and began research to see whether it worked. In 1989, he set out to identify infants and toddlers with the genetic defect, finding 89 patients. He gave them the treatment oil in conjunction with moderate low-fat diet. The severe form of the disease was stalled, according to a study in the latest issue of the Archives of Neurology.

As of this year, 66 of the 89 boys remain well. Twenty-one others showed abnormalities on a brain scan and 10 had neurological symptoms. "We've shown it has a preventative effect," said Moser. "It's very exciting."

There is an adult form of ALD that is less severe but quite disabling. It is often mistaken for multiple sclerosis. Both men and women can have the adult form of ALD. ALD affects one in 17,000 people. In the U.S., there are about 12,000 to 16,000 patients with ALD. Half have the severe form.

I agree that the article needs to be adapted somewhat for the lay readership. I'd like to avoid all the credentials of the authors of the study. Generally, this distracts from the actual findings, as people tend to home in on a scientist's credentials.

Of course Lorenzo's Oil needs mentioning (perhaps even the Phil Collins song). JFW | T@lk 16:52, 12 July 2005 (UTC)

Would you (or anyone else) mind editing? With any luck at least a few parents will find in a revised article enough useful information to correctly identify the symptoms in their own sons and begin the treatment, saving the affected families from the inevitably tragedy. Knowledge for its own sake isn't enough at Wikepedia, IMO. To that end I think the article's section on symptoms should extended with a plain English explanation of the symptoms, viz. behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. (I updated one reference link and added another, by the way.)

Can someone explain the relationship (if any exists) between Acyl-CoA and disrupted peroxisome membrane transport protein ABCD1? I've come to understand that ALD patients lack Acyl-CoA function, and have a mutated ALD gene, resulting in irregular ABCD1 function. Is there a well established connection? 209.236.158.250 (talk • contribs)

How strong do you want it? The linkage is strong, but the mechanism is unclear, see Mendelian Inheritance in Man (OMIM) 300100. JFW | T@lk 14:21, 13 December 2005 (UTC)